| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Adenomyosis |
|
Adenomyosis |
OMIM:600458 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased pro... |
ORPHA:2442 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Camptodactyly, Patent ductus arteriosus, Death in infancy, Anemia, Thrombocytopen... |
OMIM:608104 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Abnormal bleeding, Cirrhosis, Cholestasis, Hepatic fibr... |
OMIM:231100 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
| Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Abnormal uterine cervix morphology, Uterus didelphys, Partial vaginal septum, Hydrocolpos |
ORPHA:3411 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Decreased testicular size |
OMIM:601815 |
| Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Anemia, Thrombocytopenia |
ORPHA:2123 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:616738 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... |
ORPHA:65681 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis |
OMIM:612964 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia |
OMIM:194350 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
| African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Genital ulcers, Lymphopenia |
OMIM:616744 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fulminant hepatic failure, Dilated cardiomyopath... |
OMIM:231530 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Coarctation of the descendin... |
ORPHA:1457 |
| Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Carcinoid Syndrome |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Heart murmur, Elevated hepatic ... |
ORPHA:100093 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
| Transaldolase Deficiency |
|
Anemia, Abnormality of the clitoris, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia, Neutr... |
OMIM:193670 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
| Stt3B-Cdg |
|
Cryptorchidism, Thrombocytopenia, Small scrotum, Micropenis |
ORPHA:370924 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Decreased mean corpuscular volume, Microvesicular hepatic steatosis, Hep... |
OMIM:618278 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Thrombocytopenia, Small scrotum, Micropenis |
OMIM:615597 |
| Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Hypospadias, Cryptorchidism, Thrombocytopenia |
OMIM:616737 |
| Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Budd-Chiari syndrome, Hepatomegaly, Hemobilia, Anemia, Po... |
ORPHA:88673 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
| Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Camptodactyly, Patent ductus arteriosus... |
ORPHA:363444 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Immunodeficiency 105 |
|
Lymphopenia, Death in childhood, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impair... |
OMIM:619924 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
| Preeclampsia |
|
Polycystic ovaries, Thrombocytopenia |
ORPHA:275555 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic failure, Elevated hepatic transami... |
ORPHA:71212 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... |
OMIM:600987 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Perimembranous vent... |
OMIM:617877 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Hypertrophic ca... |
OMIM:201475 |
| Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Micropenis |
OMIM:606593 |
| Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal defect |
OMIM:618804 |
| Hereditary Breast And Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer |
ORPHA:145 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Microcytic anemia, Anemia, Thro... |
ORPHA:848 |
| Acute Liver Failure |
|
Hepatocellular necrosis, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hyp... |
ORPHA:90062 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Hypoplasia of penis |
ORPHA:2491 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... |
OMIM:400045 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
| Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly |
OMIM:610539 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Lathosterolosis |
|
Ambiguous genitalia, male, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosi... |
OMIM:607330 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Arrhythmia, Increased circulating lactate dehydrogenase c... |
ORPHA:26791 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, At... |
OMIM:158170 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| +173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... |
OMIM:173470 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Neonatal death, Coarctation of aorta |
OMIM:601612 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Dilatation of the... |
ORPHA:99094 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Flexion contracture, Macroglossia, Muscular dystrophy, Cerebellar hypoplasia, Congenital muscular... |
OMIM:613155 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebe... |
OMIM:616531 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... |
OMIM:613426 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Thrombocytopenia, Pancytopenia |
OMIM:613987 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Semilobar holoprosencep... |
OMIM:618651 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Hypospadias, Thrombocytosis, Splenomegaly |
OMIM:222470 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
OMIM:600001 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Hepatosplenomegaly, Thrombocytopeni... |
ORPHA:158057 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:613101 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Macroglossia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Ventricular sept... |
OMIM:301040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Left ventricular hypertrophy, Death in childhood, Muscular dystrophy, Hypoplasia o... |
OMIM:613153 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice |
OMIM:231680 |
| Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
| Hymen, Imperforate |
|
Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Hypospadias, Thrombocytopenia |
ORPHA:487796 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:617443 |
| Donnai-Barrow Syndrome |
|
Abnormality of the uterus, Bicornuate uterus |
ORPHA:2143 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Thrombocytopenia, Leukopenia |
OMIM:618116 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Thrombocytopenia, Clitoral hypertrophy |
ORPHA:96181 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy, Cerebellar dysplasia |
OMIM:615041 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
| Mungan Syndrome |
|
Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:611376 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:610333 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytosis |
ORPHA:84064 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:54057 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Coarctation of aorta, Tetralogy of Fallot, ... |
ORPHA:508498 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Cerebellar dysplasia, Biventricular hypertrophy |
OMIM:250951 |
| Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Secundum atrial septal ... |
OMIM:300855 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebel... |
OMIM:617751 |
| Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... |
OMIM:139090 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Meacham Syndrome |
|
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Diaphragmatic eve... |
OMIM:608978 |
| Babesiosis |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Hypospadias, Cryptorchidism, Thrombocytopenia |
OMIM:611209 |
| Kennerknecht syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
| Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... |
OMIM:613011 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, B lymphocytopenia |
OMIM:619851 |
| 46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Rubinstein-Taybi Syndrome 1 |
|
Vascular ring, Atrial septal defect, Hypoplastic left heart, Flexion contracture, Accessory splee... |
OMIM:180849 |
| Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:507 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
| Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
| Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia |
ORPHA:858 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology |
ORPHA:229717 |
| Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... |
OMIM:619705 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia |
OMIM:152700 |
| Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio |
OMIM:150550 |
| Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... |
OMIM:308240 |
| Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia |
ORPHA:27 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
| Transaldolase Deficiency |
|
Splenomegaly, Hepatosplenomegaly, Clitoral hypertrophy, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:606003 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia |
OMIM:617475 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly |
ORPHA:79312 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... |
ORPHA:432 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Uterus didelphys, Aplasia of the vagina, Septate vagina |
OMIM:146255 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Muscular dystrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysp... |
OMIM:615181 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
| Duplication Of Urethra |
|
Chordee, Distal urethral duplication, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, C... |
ORPHA:237 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Cerebellar hypoplasia, Ventricular septal defect, Patent ductus arteriosus... |
ORPHA:500159 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Mirage Syndrome |
|
Lymphopenia, Hypergonadotropic hypogonadism, Hypospadias, Anemia, Leukopenia, Hypoplastic spleen,... |
OMIM:617053 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Labial hypoplasia, Rectovaginal fistula, Clitoral hypertrophy, Bicornuate uterus |
OMIM:300707 |
| Ivic Syndrome |
|
Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Sideroblastic anemia, Thrombocytopenia |
OMIM:222300 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Abnormality of the urethra, Bicornuate uterus, Abnormality of the uterus |
ORPHA:2438 |
| Gamma-Heavy Chain Disease |
|
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... |
ORPHA:100026 |
| Rhabdoid Tumor |
|
Anemia, Thrombocytopenia |
ORPHA:69077 |
| Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259710 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Cryptorchidi... |
OMIM:600901 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Aplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia |
OMIM:613990 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... |
ORPHA:3226 |
| Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Severe B lymphocytopenia, Perimem... |
ORPHA:83617 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
| Congenital Rubella Syndrome |
|
Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:290 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:398124 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... |
OMIM:304790 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... |
OMIM:301078 |
| Hand-Foot-Genital Syndrome |
|
Chordee, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, Longitudinal vaginal septum |
OMIM:140000 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells |
OMIM:618048 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... |
ORPHA:90796 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Urethral stricture, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Cryptorchidi... |
OMIM:227650 |
| Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
| Fetal Gaucher Disease |
|
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia |
ORPHA:85212 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
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Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Estrogen Resistance Syndrome |
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Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612926 |
| Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Von Willebrand Disease, Type 3 |
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Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Prune Belly Syndrome |
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Urogenital sinus anomaly, Cryptorchidism, Abnormality of the uterus, Decreased testicular size, C... |
ORPHA:2970 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612922 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
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Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
| Letterer-Siwe Disease |
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Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia |
OMIM:246400 |
| Hermansky-Pudlak Syndrome 5 |
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Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytopenia |
OMIM:614074 |
| Refractory Anemia With Excess Blasts |
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Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... |
ORPHA:86839 |
| Oeis Complex |
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Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
| Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
| Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Autosomal Dominant Coarctation Of Aorta |
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Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Fanconi Anemia, Complementation Group B |
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Micropenis, Hypergonadotropic hypogonadism, Aplastic anemia, Hypogonadism, Thrombocytopenia |
OMIM:300514 |
| Thrombocytopenia 6 |
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Thrombocytopenia |
OMIM:616937 |
| Portal Hypertension, Noncirrhotic, 2 |
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Thrombocytopenia, Splenomegaly |
OMIM:619463 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
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Thrombocytopenia |
OMIM:616577 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... |
ORPHA:370022 |
| Tularemia |
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Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:3392 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612925 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
| Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
| Schimke Immunoosseous Dysplasia |
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Neutropenia, Abnormal T cell morphology, Lymphopenia, Thrombocytopenia, Pancytopenia, Anemia, Bil... |
OMIM:242900 |
| Immunodeficiency 36 |
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Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
| Teebi Hypertelorism Syndrome 1 |
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Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
| Relapsing Fever |
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Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:91547 |
| Matthew-Wood Syndrome |
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Abnormal spleen morphology, Cryptorchidism, Abnormality of the uterus |
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